Hs02067858_cn

• Gene Symbol: BRF1
• Assay Reference Genome Location: Chr.14:105250805 on build GRCh38
• Cytoband: 14q32.33

Target Gene Details

• Entrez Gene ID: 2972
• Gene Name: BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
• Gene Aliases: BRF, BRF-1, CFDS, GTF3B, HEL-S-76p, TAF3B2, TAF3C, TAFIII90, TF3B90, TFIIIB90, hBRF
• Location: Chr.14:105209286-105315577 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BRF1	NM_001242786.1			NP_001229715.1
	NM_001242787.1			NP_001229716.1
	NM_001242788.1			NP_001229717.1
	NM_001519.3			NP_001510.2
	XM_005267561.3			XP_005267618.1
	XM_011536672.2			XP_011534974.1
	XM_011536673.1			XP_011534975.1
	AK294899.1
	AK295579.1
	BC086856.1			AAH86856.1
	U28838.1			AAC50170.1
	U75276.1			AAB38876.1

Target Gene Details

• Entrez Gene ID: 90135
• Gene Name: BTB domain containing 6
• Gene Aliases: BDPL
• Location: Chr.14:105248542-105251093 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BTBD6	NM_033271.2	5	1699	NP_150374.2
	XM_005268188.3	4	1867	XP_005268245.1
	AF086420.1	1	130
	AF173358.1	1	1439	AAF36536.1
	AF353674.1	4	1563	AAK39520.1
	BC006414.1	1	486	AAH06414.1
	BC042525.1	5	1669	AAH42525.1
	BU730253.1	1	303

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv566186	Chr.14:105209364 - 105312968 on Build GRCh38	Loss	PACS2 BRF1 BTBD6
esv2760014	Chr.14:105047009 - 105483089 on Build GRCh38	Loss	GPR132 LOC102723354 PACS2 TEX22 MTA1 CRIP2 JAG2 NUDT14 BRF1 MIR6765 LOC100507437 BTBD6
nsv510651	Chr.14:105190545 - 105258818 on Build GRCh38	Deletion	BRF1 BTBD6
nsv470679	Chr.14:105124547 - 105605978 on Build GRCh38	Loss	PACS2 IGH TMEM121 NUDT14 CRIP1 LOC105370697 IGHA2 BRF1 LOC100507437 TEX22 MTA1 CRIP2 JAG2 MIR6765 BTBD6 C14orf80
nsv1054574	Chr.14:103210111 - 105365114 on Build GRCh38	Loss	LOC105370687 PACS2 LOC105378183 SNORA28 LINC00637 C14orf79 ADSSL1 LOC107984648 MIR203B ASPG APOPT1 CEP170B LOC388022 BTBD6 RD3L TMEM179 LOC105370708 LOC101929634 LOC102723354 TRMT61A ZFYVE21 INF2 C14orf180 XRCC3 C14orf2 AHNAK2 NUDT14 LINC00638 KIF26A BRF1 CKB BAG5 AKT1 CDCA4 GPR132 LOC105370691 KLC1 MIR4710 PLD4 TDRD9 JAG2 ZBTB42 MIR203A PPP1R13B SIVA1 EIF5 MIR6765 MARK3
esv29986	Chr.14:105240955 - 105366526 on Build GRCh38	Loss	PACS2 BRF1 BTBD6
nsv1052190	Chr.14:104957424 - 105256316 on Build GRCh38	Gain	CDCA4 GPR132 LOC102723354 JAG2 C14orf79 AHNAK2 NUDT14 BRF1 MIR6765 BTBD6
nsv1054190	Chr.14:105246882 - 105701138 on Build GRCh38	Gain	PACS2 IGHG2 IGH TMEM121 MIR8071-1 CRIP1 LOC105370697 IGHA2 BRF1 MIR8071-2 LOC100507437 TEX22 MTA1 CRIP2 ELK2AP IGHG4 BTBD6 C14orf80
nsv517055	Chr.14:105136282 - 106779068 on Build GRCh38	Gain+Loss	MIR4539 IGHV3-23 PACS2 IGHG3 TMEM121 MIR8071-1 LOC105370697 IGHV4-31 IGHA2 LOC100507437 MIR4537 MIR4538 LINC00221 LOC107987211 IGHV3-30 CRIP2 ELK2AP IGHG1 ADAM6 IGHG4 BTBD6 C14orf80 MIR4507 IGHG2 LINC00226 IGH IGHD NUDT14 IGHV3-41 KIAA0125 CRIP1 BRF1 MIR8071-2 IGHV1-69 TEX22 IGHV3-71 IGHM MTA1 JAG2 IGHV3-48 IGHV4-55 IGHV3-69-1 MIR6765 IGHA1

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

general transcription factor, ubiquitin-protein ligase

Gene Ontology Categories:

Process(es)

regulation of transcription, DNA-templated
transcription from RNA polymerase III promoter
transcription initiation from RNA polymerase III promoter
rRNA transcription
tRNA transcription
neurogenesis
regulation of proteolysis
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
proteasome-mediated ubiquitin-dependent protein catabolic process

Function(s)

zinc ion binding
TBP-class protein binding
ubiquitin protein ligase binding